The objectives of the research are to delineate and correlate the clinical, biochemical and molecular heterogeneity within and among the variants of Gaucher disease (acid beta-glucosidase deficiency), the most prevalent lysosomal storage disease. The availability of a large cell bank from Gaucher disease patients and a large number of new patients provides an opportunity for the evaluation of molecular correlations for the development of pre- and postnatal prognostic tests as a basis for therapeutic interventions.